Results 41 to 50 of about 62,873 (218)

Anderson-Fabry disease management: role of the cardiologist.

European Heart Journal
Anderson-Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM).
M. Pieroni, Mehdi Namdar, I. Olivotto, Robert J. Desnick   +3 more
semanticscholar   +3 more sources

A Non-Invasive Technique to Unveil Renal Implications in Anderson–Fabry Disease [PDF]

Biomedicines
Background: Anderson–Fabry disease (AFD) is a rare genetic disorder characterized by a deficiency of α-galactosidase A activity and the accumulation of glycosphingolipids in tissues, which leads to multiorgan damage.
Matteo Gravina, Dario Troise, Barbara Infante, Luciano Tartaglia, Bruno Minopoli, Costanza Allegra, Grazia Casavecchia, Marcella Gambacorta, Carmen Montanile, Silvia Mercuri, Luca Macarini, Giovanni Stallone   +11 more
doaj   +2 more sources

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Cardiogenetics
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency.
Gabriela Dostalova, Jaroslav Januska, Michaela Veselá, Petra Reková, Anna Taborska, Martin Pleva, David Zemanek, Aleš Linhart   +7 more
doaj   +2 more sources

Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease [PDF]

Journal of Cardiovascular Development and Disease
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality.
Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev   +9 more
doaj   +2 more sources

Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease [PDF]

Journal of Cardiovascular Magnetic Resonance, 2016
published_or_final_versio
Crean, A, Deva, DP, Hanneman, K, Iwanochko, RM, Li, Q, Morel, C, Ng, MY, Thavendiranathan, P, Wasim, S   +8 more
core   +2 more sources

Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell ...
Edwin H, Kolodny, Gregory M, Pastores
openaire   +2 more sources

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología, 2023
Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Nefrología (English Edition), 2023
Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source